Variant report

Variant	rs72711448
Chromosome Location	chr1:174079453-174079454
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:173835673..173838237-chr1:174076539..174080354,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185278	Chromatin interaction
ENSG00000234741	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10912728	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10912733	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10912735	0.97[ASN][1000 genomes]
rs10912737	0.92[ASN][1000 genomes]
rs10912740	0.97[ASN][1000 genomes]
rs10912741	0.97[ASN][1000 genomes]
rs12065785	0.97[ASN][1000 genomes]
rs12075630	0.89[ASN][1000 genomes]
rs12076771	0.92[ASN][1000 genomes]
rs12079214	0.97[ASN][1000 genomes]
rs12079687	0.97[ASN][1000 genomes]
rs12082461	0.97[ASN][1000 genomes]
rs12087808	0.97[ASN][1000 genomes]
rs12093691	0.97[ASN][1000 genomes]
rs12354141	0.97[ASN][1000 genomes]
rs1407127	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1417186	0.97[ASN][1000 genomes]
rs16846717	0.97[ASN][1000 genomes]
rs16846718	0.92[ASN][1000 genomes]
rs17300775	0.97[ASN][1000 genomes]
rs17350956	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17350991	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17353198	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1934681	0.97[ASN][1000 genomes]
rs3086	0.97[ASN][1000 genomes]
rs4233169	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4650950	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4650951	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4650958	0.97[ASN][1000 genomes]
rs4650959	0.97[ASN][1000 genomes]
rs4652179	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4652191	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4652193	0.97[ASN][1000 genomes]
rs4652204	0.97[ASN][1000 genomes]
rs56152378	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56158362	0.97[ASN][1000 genomes]
rs56239105	0.97[ASN][1000 genomes]
rs56375942	0.97[ASN][1000 genomes]
rs56404641	0.94[ASN][1000 genomes]
rs57407575	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59044210	0.92[ASN][1000 genomes]
rs6656491	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6668008	0.97[ASN][1000 genomes]
rs6670425	0.97[ASN][1000 genomes]
rs6676161	0.97[ASN][1000 genomes]
rs6685499	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6694208	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs724888	0.97[ASN][1000 genomes]
rs724889	0.97[ASN][1000 genomes]
rs72711443	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72711457	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72711487	0.97[ASN][1000 genomes]
rs72711492	0.97[ASN][1000 genomes]
rs727912	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916960	chr1:173907804-174080248	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv831937	chr1:173949373-174131463	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
3	nsv465661	chr1:174014507-174152688	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv548193	chr1:174014507-174152688	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv872552	chr1:174061844-174469748	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs72711448	RP11-160H22.5	cis	Thyroid	GTEx
rs72711448	RABGAP1L	cis	Esophagus Muscularis	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174078200-174079600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:174078800-174079600	Enhancers	Primary B cells from peripheral blood	blood
3	chr1:174079000-174079800	Enhancers	GM12878-XiMat	blood
4	chr1:174079400-174079800	Enhancers	Primary B cells from cord blood	blood

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